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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-37762667-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37762667&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37762667,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144964.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "NM_144964.4",
"protein_id": "NP_659401.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 316,
"cds_start": 277,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297994.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144964.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "ENST00000297994.4",
"protein_id": "ENSP00000297994.3",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 316,
"cds_start": 277,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144964.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297994.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.277A>C",
"hgvs_p": null,
"transcript": "ENST00000488673.6",
"protein_id": "ENSP00000437395.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488673.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255872",
"gene_hgnc_id": null,
"hgvs_c": "n.*910+21247T>G",
"hgvs_p": null,
"transcript": "ENST00000540557.1",
"protein_id": "ENSP00000457548.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540557.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "ENST00000913190.1",
"protein_id": "ENSP00000583249.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 316,
"cds_start": 277,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913190.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "ENST00000913193.1",
"protein_id": "ENSP00000583252.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 315,
"cds_start": 277,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913193.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "ENST00000857926.1",
"protein_id": "ENSP00000527985.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 307,
"cds_start": 277,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857926.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "ENST00000913192.1",
"protein_id": "ENSP00000583251.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 265,
"cds_start": 277,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913192.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "NM_001286950.2",
"protein_id": "NP_001273879.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 256,
"cds_start": 277,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286950.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "ENST00000537911.5",
"protein_id": "ENSP00000444997.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 256,
"cds_start": 277,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537911.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.101A>C",
"hgvs_p": "p.Gln34Pro",
"transcript": "NM_001286954.2",
"protein_id": "NP_001273883.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 196,
"cds_start": 101,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286954.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.316A>C",
"hgvs_p": "p.Asn106His",
"transcript": "XM_011517735.4",
"protein_id": "XP_011516037.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 329,
"cds_start": 316,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517735.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.316A>C",
"hgvs_p": "p.Asn106His",
"transcript": "XM_011517736.4",
"protein_id": "XP_011516038.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 320,
"cds_start": 316,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517736.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.277A>C",
"hgvs_p": "p.Asn93His",
"transcript": "XM_024447426.2",
"protein_id": "XP_024303194.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 307,
"cds_start": 277,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447426.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.316A>C",
"hgvs_p": "p.Asn106His",
"transcript": "XM_047422833.1",
"protein_id": "XP_047278789.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 295,
"cds_start": 316,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422833.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.316A>C",
"hgvs_p": "p.Asn106His",
"transcript": "XM_017014313.3",
"protein_id": "XP_016869802.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 285,
"cds_start": 316,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014313.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.316A>C",
"hgvs_p": "p.Asn106His",
"transcript": "XM_011517742.2",
"protein_id": "XP_011516044.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 187,
"cds_start": 316,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517742.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.-1063A>C",
"hgvs_p": null,
"transcript": "XM_047422834.1",
"protein_id": "XP_047278790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.186+550A>C",
"hgvs_p": null,
"transcript": "ENST00000857927.1",
"protein_id": "ENSP00000527986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.186+550A>C",
"hgvs_p": null,
"transcript": "NM_001286952.2",
"protein_id": "NP_001273881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286952.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.186+550A>C",
"hgvs_p": null,
"transcript": "ENST00000377753.6",
"protein_id": "ENSP00000366982.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377753.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.10+550A>C",
"hgvs_p": null,
"transcript": "NM_001286951.2",
"protein_id": "NP_001273880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286951.2"
},
{
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144964.4",
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"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000540557.1",
"gene_symbol": "ENSG00000255872",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*910+21247T>G",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000679059.1",
"gene_symbol": "EXOSC3",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}